Objective: To search for new potential diabetogenic mtDNA defects by scanning mtDNA genome in mitochondrial DNA diabetes (MDM) pedigrees.
Methods: Blood samples were collected from the family members in two suspected MDM pedigrees, which were both maternal transmitted and early-onset diabetes. The whole mtDNA genome except D-loop was detected by direct sequencing in probands of these two diabetic pedigrees. Novel mutations displayed by direct sequencing were then screened in 200 normal glucose tolerant controls and 100 early-onset diabetic patients.
Results: We found a novel nt14319T --> C mutation in No. 2 pedigree, but no pathogenic mutation was found in No. 1 pedigree. The mutation of nt14319T --> C, which not being reported previously, locate in the region of ND6 subunit, causing amino acid change (asparagine --> aspartic acid). The frequencies of 14319T/C substitution in 100 early-onset diabetic patients and 200 control subjects were 6% and 5%(P > 0.05).
Conclusion: A novel mutation 14319T --> C was identified in No. 2 pedigree. All three diabetic family members in this pedigree haboured 14319T --> C mutation, indicating that it may be the major pathogenic mutation for this family.
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Int J Mol Sci
December 2024
Centre of Cardiovascular Diseases and Internal Medicine, Borsod-Abauj-Zemplen County Central Hospital and University Teaching Hospital, Szentpéteri kapu 72-76, 3526 Miskolc, Hungary.
Coenzyme Q10 (CoQ10) plays a crucial role in facilitating electron transport during oxidative phosphorylation, thus contributing to cellular energy production. Statin treatment causes a decrease in CoQ10 levels in muscle tissue as well as in serum, which may contribute to the musculoskeletal side effects. Therefore, we aimed to assess the effect of newly initiated statin treatment on serum CoQ10 levels after acute ST-elevation myocardial infarction (STEMI) and the correlation of CoQ10 levels with key biomarkers of subclinical or clinically overt myopathy.
View Article and Find Full Text PDFEur Thyroid J
January 2025
D Yabe, Department of Diabetes, Endocrinology and Nutrition, Kyoto University Graduate School of Medicine Faculty of Medicine, Kyoto, Japan.
Immune checkpoint inhibitors (ICIs) frequently cause immune-related adverse events (irAEs), with thyroid irAEs being the most common endocrine-related irAEs. The incidence of overt thyroid irAEs ranged 8.9-22.
View Article and Find Full Text PDFPlacenta
January 2025
Mater Research Institute, University of Queensland, Level 3, Aubigny Place, Raymond Terrace, South Brisbane, Queensland, 4101, Australia; School of Medicine, The University of Queensland, Herston, Queensland, 4006, Australia; NHMRC Centre for Research Excellence in Stillbirth, Mater Research Institute, University of Queensland, Brisbane, Queensland, Australia. Electronic address:
Introduction: The aim of this study was to evaluate differences in circulating maternal placental biomarkers and fetoplacental Dopplers in women with diabetes mellitus in pregnancy (DIP) with prenatally identified small fetuses (defined as <20th centile for gestational age) compared to women with small fetuses without DIP.
Methods: This was a prospective cohort study of women with DIP with small infants compared to a non-diabetic cohort with similarly small fetuses. Multivariable logistic regression was used to evaluate the effect of DIP on placental biomarkers, fetoplacental Dopplers, and adverse perinatal outcomes.
J Clin Endocrinol Metab
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Italy.
Cureus
December 2024
Diagnostic Radiology, Lady Reading Hospital Peshawar, Peshawar, PAK.
Introduction Rising prevalence rates of type 2 diabetes mellitus (T2DM), particularly in younger populations, have made early-onset T2DM (diagnosed before age 40) an increasingly significant health concern. Early-onset T2DM is often associated with more rapid progression and increased complications, including cardiovascular disease (CVD). However, its specific impact on cardiovascular outcomes remains inadequately understood, particularly compared to T2DM in older populations.
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